GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY; FORMIMINOGLUTAMIC ACIDURIA (FIGLU)

Question 1

What is  GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY; FORMIMINOGLUTAMIC ACIDURIA (FIGLU)?

Accepted Answer

very rare
autosomal recessive

mutation in the FTCD gene

- severe phenotype (intellectual disability, megaloblastic anemia)

- milder phenotype have been reported

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Formiminoglutaminsäure-Krankheit; Formimidoyltransferase-Cyclodeaminase-Mangel;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 229100

Question 4

Which enzymes are involved?

Accepted Answer

Formimidoyltransferase-cyclodeaminase

Disease	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY; FORMIMINOGLUTAMIC ACIDURIA (FIGLU)
Synonym	FORMIMINOTRANSFERASE DEFICIENCY
OMIM	229100 OMIM = Online Mendelian Inheritance of Men
Orphanet	51208
Protein (UniProt)	Formimidoyltransferase-cyclodeaminase
ExPASy	2.1.2.5 / 4.3.1.4
Gene locus	21q22.3
ICD	E70.8
Summary	very rare autosomal recessive mutation in the FTCD gene - severe phenotype (intellectual disability, megaloblastic anemia) - milder phenotype have been reported
Laboratory findings	Folate normal/inc (serum) Formiminoglutamic acid (FIGLU) inc (urine) Hydantoin-5-propionic acid inc (urine)
Symptoms	anemia developmental delay megaloblastic anemia no clinical symptoms (probably) hypotonia intellectual disability/intellectual developmental disorder mental retardation onset, childhood onset, infancy